cerebroretinal microangiopathy with calcifications and cysts 1
Findings
No curated finding names cerebroretinal microangiopathy with calcifications and cysts 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024564), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral calcificationHPOHP:0002514
- 12 of 12 reported patients
- LeukoencephalopathyHPOHP:0002352
- 12 of 12 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 11 of 12 reported patients
- Pathologic fractureHPOHP:0002756
- 8 of 12 reported patients
- Gastrointestinal telangiectasiaHPOHP:0002604
- 6 of 13 reported patients
- AnemiaHPOHP:0001903
- 5 of 13 reported patients
- Nail dystrophyHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTC1HGNC:26169
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: cerebroretinal microangiopathy with calcifications and cysts 1
- Also called
- Coats plus syndrome caused by mutation in CTC1CTC1 Coats plus syndrome